A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666987



Internal ID9586406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:201690282..201690384hg38UCSC Ensembl
Outerchr1:201690125..201690537hg38UCSC Ensembl
Innerchr1:201659410..201659512hg19UCSC Ensembl
Outerchr1:201659253..201659665hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38413
hg19413
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5398571, essv5634709, essv6370158, essv6498566, essv5699782, essv6574430, essv5778150, essv6214994, essv6455274, essv6505876, essv6288441, essv6094620, essv5709790, essv5802721, essv6548368, essv6536962, essv6496972, essv5941885, essv6308288, essv6240959, essv5526445, essv6145552, essv6219918, essv6134428, essv5869339, essv5454779, essv6386954, essv5481272, essv6410174, essv5637111, essv5560466, essv6461950, essv6094662, essv5676060, essv6231733, essv6521677, essv5831350, essv6328994, essv6562362, essv6491990, essv6089464, essv5822465, essv6182305, essv5793439, essv5842335, essv5621678, essv5938656, essv5502546, essv5452279, essv5429469, essv6345813, essv5484622, essv6490855, essv6135130, essv6293769, essv6158550, essv6291086, essv6132504, essv5795026, essv5762633, essv5858754, essv5752054, essv5566160, essv6227215, essv5799363, essv5903360, essv6537942, essv5436616, essv5893644, essv5537144, essv6024355, essv6414943, essv5829419, essv5977074, essv5499143, essv5540015, essv5709207, essv6270455, essv5726571, essv6239870, essv6558987, essv5717842, essv5424831, essv5900420, essv5852868, essv6366627, essv6202663, essv5940970, essv5428303, essv5806613, essv5606470, essv6068531, essv6305485, essv5624990, essv5863492, essv6047917, essv6133269, essv5602182, essv5881174, essv6403408, essv5467990, essv5813073, essv5655099, essv6217601, essv6545952, essv6058197, essv6279387, essv5521582, essv6379526, essv6192709
SamplesHG00313, HG00152, HG01359, HG00252, HG00318, HG00607, HG00257, HG00182, HG00344, HG01075, HG01055, HG00437, HG01173, HG00369, HG00131, HG01389, HG00463, HG01051, HG00428, HG00375, HG01174, NA19449, HG01350, HG00334, NA18963, HG00280, HG00699, NA18557, NA18950, HG01171, HG00479, NA18596, HG00247, HG01107, HG00339, HG00242, HG01140, HG01375, NA18536, NA18623, HG01048, HG01061, NA18636, HG01124, HG00338, HG00533, NA19774, HG00258, HG01136, NA18637, HG00254, HG00276, HG00357, HG00662, HG00114, NA19786, NA19080, NA19785, HG00108, NA19759, HG00653, HG00325, HG00629, HG00263, NA19731, HG01073, HG00265, HG00501, HG01069, HG00249, HG00277, HG01080, HG01351, HG00513, HG00524, HG00329, HG00512, HG00525, HG01060, HG00377, HG00236, HG00589, NA18543, HG00427, HG00443, HG00650, HG00138, HG00580, NA19719, NA18544, NA19755, NA18548, NA19770, NA19749, HG00285, HG00656, NA19732, HG00422, HG01108, HG00693, HG01125, HG00251, HG00320, HG00275, HG00442, HG01374, HG01102, HG00684, HG00704, HG00278
Known GenesIPO9-AS1, NAV1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666987
Frequency
Sample Size1151
Observed Gain0
Observed Loss110
Observed Complex0
Frequencyn/a


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